Results 131 to 140 of about 29,876 (307)

Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro [PDF]

open access: yes, 2016
Connexin26 (Cx26) mutations underlie human pathologies ranging from hearing loss to keratitis ichthyosis deafness (KID) syndrome. Cx26 hemichannels are directly gated by CO2 and contribute to the chemosensory regulation of breathing.
Cook, Jonathan   +3 more
core   +1 more source

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]

open access: yes, 2015
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo   +7 more
core   +2 more sources

Ocular manifestation of Ichthyosis

open access: yesSaudi Journal of Ophthalmology, 2016
Ichthyosis is a rare dermato-ocular disease. This study evaluates the presenting ocular signs, symptoms, complications and prognosis of ichthyosis in a case series from Saudi Arabia.A retrospective chart review was performed for 11 patients with ichthyosis who presented to King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, over the last 20 ...
openaire   +3 more sources

Does "ichthyosis uteri" have malignant potential? : A case report of squamous cell carcinoma of endometrium associated with extensive ichthyosis uteri

open access: yesDiagnostic Pathology, 2008
Ichthyosis uteri is a rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Though the condition often is considered as benign, anaplastic and dysplastic changes have been reported.
Sridevi V   +3 more
doaj   +1 more source

Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities

open access: yes, 2000
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core   +1 more source

CASE OF FATAL FETAL ICHTHYOSIS. [PDF]

open access: green, 1900
ANNIE STURGIS DANIEL
openalex   +1 more source

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